Canonical Allele Identifier: CA392069796
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048393T>A , CM000677.2:g.43048393T>A GRCh38
NC_000015.9:g.43340591T>A , CM000677.1:g.43340591T>A GRCh37
NC_000015.8:g.41127883T>A NCBI36
NG_012182.1:g.62696A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.1538A>T MANE Select ENSP00000290650.4:p.Gln513Leu
ENST00000290650.8:c.1538A>T ENSP00000290650.4:p.Gln513Leu
ENST00000546274.6:c.1538A>T ENSP00000477932.1:p.Gln513Leu
ENST00000563239.1:c.*203-1104A>T ENSP00000456502.1:n.*203-1104A>T
ENST00000569971.5:c.409A>T ENSP00000455759.1:n.409A>T
NM_174916.2:c.1538A>T NP_777576.1:p.Gln513Leu
NM_174916.3:c.1538A>T MANE Select NP_777576.1:p.Gln513Leu